Canonical Allele Identifier: CA379807498

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434254C>G (hg19) ; chr11:g.17412707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412707C>G , CM000673.2:g.17412707C>G	GRCh38
NC_000011.9:g.17434254C>G , CM000673.1:g.17434254C>G	GRCh37
NC_000011.8:g.17390830C>G	NCBI36
NG_008867.1:g.69196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2184G>C
ENST00000529967.6:n.774G>C
ENST00000642611.2:n.2584G>C
ENST00000682051.1:n.2531G>C
ENST00000682110.1:n.2584G>C
ENST00000682140.1:c.2512G>C	ENSP00000507829.1:p.Val838Leu
ENST00000682185.1:n.3820G>C
ENST00000682204.1:c.*653G>C	ENSP00000507094.1:n.*653G>C
ENST00000682215.1:n.2581G>C
ENST00000682288.1:c.*946G>C	ENSP00000507506.1:n.*946G>C
ENST00000682442.1:n.2705G>C
ENST00000682528.1:n.2581G>C
ENST00000682673.1:n.2528G>C
ENST00000682805.1:n.2581G>C
ENST00000682965.1:c.2512G>C	ENSP00000508229.1:p.Val838Leu
ENST00000683093.1:n.2683G>C
ENST00000683136.1:c.2512G>C	ENSP00000507768.1:p.Val838Leu
ENST00000683153.1:n.2740G>C
ENST00000683365.1:n.2686G>C
ENST00000683377.1:n.2584G>C
ENST00000683456.1:c.2515G>C	ENSP00000508318.1:p.Val839Leu
ENST00000683522.1:n.2584G>C
ENST00000683562.1:c.*684G>C	ENSP00000508265.1:n.*684G>C
ENST00000683693.1:n.2581G>C
ENST00000683725.1:c.2515G>C	ENSP00000507496.1:p.Val839Leu
ENST00000684010.1:n.2499G>C
ENST00000684157.1:n.2584G>C
ENST00000684253.1:n.2487G>C
ENST00000684288.1:c.*687G>C	ENSP00000507143.1:n.*687G>C
ENST00000684313.1:n.2016G>C
ENST00000684332.1:n.2657G>C
ENST00000684371.1:n.2690G>C
ENST00000684404.1:n.2581G>C
ENST00000684442.1:n.2584G>C
ENST00000684555.1:c.*727G>C	ENSP00000507705.1:n.*727G>C
ENST00000684571.1:c.2356G>C	ENSP00000506935.1:p.Val786Leu
ENST00000684593.1:c.*2220G>C	ENSP00000507005.1:n.*2220G>C
ENST00000684711.1:c.*911G>C	ENSP00000506841.1:n.*911G>C
ENST00000302539.9:c.2518G>C	ENSP00000303960.4:p.Val840Leu
ENST00000389817.8:c.2515G>C MANE Select	ENSP00000374467.4:p.Val839Leu
ENST00000642271.1:c.2512G>C	ENSP00000493749.1:p.Val838Leu
ENST00000642579.1:c.599G>C
ENST00000642611.1:n.2469G>C
ENST00000642902.1:c.2350G>C
ENST00000643260.1:c.2515G>C	ENSP00000494450.1:p.Val839Leu
ENST00000643562.1:c.*491G>C	ENSP00000496124.1:n.*491G>C
ENST00000643925.1:c.559G>C
ENST00000644447.1:c.871G>C	ENSP00000496282.1:p.Val291Leu
ENST00000644472.1:c.*876G>C	ENSP00000495378.1:n.*876G>C
ENST00000644484.1:c.*724G>C	ENSP00000493558.1:n.*724G>C
ENST00000644542.1:c.*2220G>C	ENSP00000495532.1:n.*2220G>C
ENST00000644675.1:c.*687G>C	ENSP00000494567.1:n.*687G>C
ENST00000644757.1:c.*820G>C	ENSP00000495085.1:n.*820G>C
ENST00000644772.1:c.2581G>C	ENSP00000494321.1:p.Val861Leu
ENST00000645076.1:c.1767G>C
ENST00000645744.1:c.*879G>C	ENSP00000494564.1:n.*879G>C
ENST00000645760.1:c.2790G>C
ENST00000645884.1:c.2515G>C	ENSP00000495516.1:p.Val839Leu
ENST00000646003.1:c.*571G>C	ENSP00000495259.1:n.*571G>C
ENST00000646207.1:c.*879G>C	ENSP00000495025.1:n.*879G>C
ENST00000646276.1:c.*788G>C	ENSP00000496070.1:n.*788G>C
ENST00000646592.1:c.1741G>C
ENST00000646902.1:c.2512G>C	ENSP00000494101.1:p.Val838Leu
ENST00000646993.1:c.*911G>C	ENSP00000493720.1:n.*911G>C
ENST00000647013.1:c.2521G>C	ENSP00000496741.1:n.2521G>C
ENST00000647015.1:c.2266G>C	ENSP00000495389.1:p.Val756Leu
ENST00000647086.1:c.*2245G>C	ENSP00000493677.1:n.*2245G>C
ENST00000647158.1:c.*656G>C	ENSP00000495744.1:n.*656G>C
ENST00000302539.8:c.2518G>C	ENSP00000303960.4:p.Val840Leu
ENST00000389817.7:c.2515G>C	ENSP00000374467.3:p.Val839Leu
ENST00000526921.5:n.199G>C
ENST00000527905.5:c.2485G>C	ENSP00000431653.1:p.Val829Leu
ENST00000529967.5:n.184G>C
ENST00000530147.5:n.98G>C
ENST00000531911.1:n.629G>C
NM_000352.4:c.2515G>C	NP_000343.2:p.Val839Leu
NM_001287174.1:c.2518G>C	NP_001274103.1:p.Val840Leu
XM_011520331.1:c.2515G>C	XP_011518633.1:p.Val839Leu
XM_011520332.1:c.2518G>C	XP_011518634.1:p.Val840Leu
XM_011520333.1:c.1015G>C	XP_011518635.1:p.Val339Leu
XM_011520334.1:c.2518G>C	XP_011518636.1:p.Val840Leu
XR_930890.1:n.2581G>C
XR_930891.1:n.2581G>C
XR_930892.1:n.2581G>C
XR_930893.1:n.2578G>C
NM_001351295.1:c.2581G>C	NP_001338224.1:p.Val861Leu
NM_001351296.1:c.2515G>C	NP_001338225.1:p.Val839Leu
NM_001351297.1:c.2512G>C	NP_001338226.1:p.Val838Leu
NR_147094.1:n.2584G>C
XM_017018197.2:c.2584G>C	XP_016873686.1:p.Val862Leu
XM_017018199.1:c.2581G>C	XP_016873688.1:p.Val861Leu
XM_017018201.2:c.2584G>C	XP_016873690.1:p.Val862Leu
XM_017018202.1:c.1081G>C	XP_016873691.1:p.Val361Leu
XM_017018204.1:c.472G>C	XP_016873693.1:p.Val158Leu
XM_024448668.1:c.883G>C	XP_024304436.1:p.Val295Leu
XR_001747945.2:n.2656G>C
XR_001747946.2:n.2587G>C
XR_002957189.1:n.2656G>C
NM_000352.6:c.2515G>C MANE Select	NP_000343.2:p.Val839Leu
NM_001287174.2:c.2518G>C	NP_001274103.1:p.Val840Leu
NM_001351295.2:c.2581G>C	NP_001338224.1:p.Val861Leu
NM_001351296.2:c.2515G>C	NP_001338225.1:p.Val839Leu
NM_001351297.2:c.2512G>C	NP_001338226.1:p.Val838Leu
NR_147094.2:n.2584G>C
NM_001287174.3:c.2518G>C	NP_001274103.1:p.Val840Leu